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Open Access Case report

CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy

Gerald G Behr1*, Leonardo Liberman2, Jocelyn Compton3, Maria C Garzon4, Kimberly D Morel4, Christine T Lauren4, Thomas J Starc2, Stephen J Kovacs9, Vincent Beltroni9, Rachel Landres9, Kwame Anyane-Yeboa5, Philip M Meyers6, Emile Bacha7 and Jessica J Kandel8

Author Affiliations

1 Department of Radiology, Division of Pediatric Radiology Columbia University, New York, NY, USA

2 Department of Pediatrics, Division of Cardiology Columbia University, New York, NY, USA

3 Columbia College of Physicians & Surgeons, New York, NY, USA

4 Department of Dermatology and Pediatrics, Columbia University, New York, NY, USA

5 Department of Pediatrics, Division of Clinical Genetics, Columbia University, New York, NY, USA

6 Department of Radiology, Division of Interventional Neuroradiology, Columbia University, New York, NY, USA

7 Department of Surgery, Division of Cardiothoracic Surgery, Columbia University, New York, NY, USA

8 Department of Surgery, Division of Pediatric Surgery, Columbia University, New York, NY, USA

9 Division of Neonatology, Vassar Brothers Medical Center, Poughkeepsie, NY, USA

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Vascular Cell 2012, 4:19  doi:10.1186/2045-824X-4-19

Published: 20 November 2012

Abstract

Mutations in the RASA-1 gene underlie several related disorders of vasculogenesis. Capillary malformation-arteriovenous malformation (CM-AVM) is one such entity and was recently encountered in a neonate who demonstrated its clinical and radiologic features. A single mutation in the RASA-1 gene was detected.

A novel flow reduction strategy was employed to a large AVM affecting the patient’s upper limb. The imaging findings, surgical procedure and patient’s improved post-operative state are described.

Keywords:
CM-AVM; RASA 1; Parkes-Weber; Port wine stain; Vascular malformation